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Protein Ontology report - pituitary homeobox 2 (human)
PR:Q99697 - http://purl.obolibrary.org/obo/PR_Q99697
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:Q99697   
  PRO namepituitary homeobox 2 (human) 
  Synonyms
PRO-Short-label: EXACT:hPITX2
Gene-based: RELATED:ARP1 | PITX2 | RGS | RIEG | RIEG1
Other: EXACT:ALL1-responsive protein ARP1 (human) | homeobox protein PITX2 (human) | paired-like homeodomain transcription factor 2 (human) | RIEG bicoid-related homeobox transcription factor (human) | solurshin (human)
  Definition"A pituitary homeobox 2 that is encoded in the genome of human." [PRO:CNA, UniProtKB:Q99697] 
  PRO Categoryorganism-gene 
  ParentPR:000000117 pituitary homeobox 2
PR:000029067 Homo sapiens protein
  Gene TemplateHGNC:9005 PITX2 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene0                                                  Organism-Gene 1                                        
         Sequence0                                                  Organism-Sequence 9                                        
         Modification0                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB:Q99697
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Protein Forms Switch to Compact View   

Category  
PRO ID
Name
Short Name
Definition
Ann. Has Annotation?

Comp. In Complex?
organism-gene


PR:Q99697
pituitary homeobox 2 (human)
hPITX2
"A pituitary homeobox 2 that is encoded in the genome of human." [PRO:CNA, UniProtKB:Q99697]

organism-sequence


PR:000000298
pituitary homeobox 2 sequence variant R89W (human)
hPITX2/var:R89W
"A pituitary homeobox 2 (human) that has a Trp residue at the position equivalent to Arg-89 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Arg-89, CHEBI:29954." [PMID:9437321, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000299
pituitary homeobox 2 sequence variant L100Q (human)
hPITX2/var:L100Q
"A pituitary homeobox 2 (human) that has a Gln residue at the position equivalent to Leu-100 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Leu-100, CHEBI:30011." [PMID:8944018, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000300
pituitary homeobox 2 sequence variant T114P (human)
hPITX2/var:T114P
"A pituitary homeobox 2 (human) that has a Pro residue at the position equivalent to Thr-114 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Thr-114, CHEBI:50342." [PMID:8944018, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000301
pituitary homeobox 2 sequence variant R115H (human)
hPITX2/var:R115H
"A pituitary homeobox 2 (human) that has a His residue at the position equivalent to Arg-115 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Arg-115, CHEBI:29979." [PMID:9618168, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000302
pituitary homeobox 2 sequence variant R137P (human)
hPITX2/var:R137P
"A pituitary homeobox 2 (human) that has a Pro residue at the position equivalent to Arg-137 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Arg-137, CHEBI:50342." [PMID:8944018, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000036294
pituitary homeobox 2 isoform 4 (human)
hPITX2/iso:4
"A pituitary homeobox 2 isoform 4 that is encoded in the genome of human." [PMID:11948188, PRO:DAN]
Yes
organism-sequence


PR:Q99697-1
pituitary homeobox 2 isoform Ptx2B (human)
hPITX2/iso:Ptx2B
"A pituitary homeobox 2 isoform Ptx2B that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697]
Yes
organism-sequence


PR:Q99697-2
pituitary homeobox 2 isoform Ptx2C (human)
hPITX2/iso:Ptx2C
"A pituitary homeobox 2 isoform Ptx2C that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697]
Yes
organism-sequence


PR:Q99697-3
pituitary homeobox 2 isoform Ptx2A (human)
hPITX2/iso:Ptx2A
"A pituitary homeobox 2 isoform Ptx2A that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697]
Yes
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000298 hPITX2/var:R89W
Example: UniProtKB:Q99697-1, Arg-89, CHEBI:29954		 associated_with_disease_progressionDO:0050786 iridogoniodysgenesis syndrome PMID:9437321
PR:000000299 hPITX2/var:L100Q
Example: UniProtKB:Q99697-1, Leu-100, CHEBI:30011		 associated_with_disease_progressionDO:14686 Axenfeld-Rieger syndrome PMID:8944018
PR:000000300 hPITX2/var:T114P
Example: UniProtKB:Q99697-1, Thr-114, CHEBI:50342		 associated_with_disease_progressionDO:14686 Axenfeld-Rieger syndrome PMID:8944018
PR:000000301 hPITX2/var:R115H
Example: UniProtKB:Q99697-1, Arg-115, CHEBI:29979		 associated_with_disease_progressionDO:0050786 iridogoniodysgenesis syndrome PMID:9618168
PR:000000302 hPITX2/var:R137P
Example: UniProtKB:Q99697-1, Arg-137, CHEBI:50342		 associated_with_disease_progressionDO:14686 Axenfeld-Rieger syndrome PMID:8944018
PR:000036294 hPITX2/iso:4 acts_upstream_of_or_withinGO:0043433 negative regulation of DNA-binding transcription factor activity PMID:11948188
enablesNOT GO:0003677 DNA binding PMID:11948188
GO:0005515 protein binding with PR:Q99697-3 PMID:11948188
GO:0005515 protein binding PMID:11948188
PR:Q99697-1 hPITX2/iso:Ptx2B acts_upstream_of_or_withinGO:0007368 determination of left/right symmetry PMID:9708732
GO:0009887 animal organ morphogenesis PMID:9618168
enablesGO:0005515 protein binding with PR:Q99697-2 PMID:11948188
GO:0005515 protein binding with PR:Q99697-3 PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C acts_upstream_of_or_withinGO:0007507 heart development PMID:11948188
enablesGO:0003677 DNA binding PMID:11948188
GO:0005515 protein binding with PR:Q99697-3 PMID:11948188
GO:0005515 protein binding PMID:11948188
PR:Q99697-3 hPITX2/iso:Ptx2A enablesGO:0005515 protein binding with PR:Q99697-2 PMID:11948188
GO:0008134 transcription factor binding PMID:16449236
located_inGO:0005634 nucleus PMID:16449236